Mutagenetix > Incidental Mutation

Incidental Mutation 'R9095:Abca4'

691266

Institutional Source

Beutler Lab

Gene Symbol

Abca4

Ensembl Gene

ENSMUSG00000028125

Gene Name

ATP-binding cassette, sub-family A member 4

Synonyms

Rim protein, RmP, D430003I15Rik, Abc10

MMRRC Submission

068910-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9095 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

121838092-121973772 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 121967556 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 2202 (H2202R)

Ref Sequence

ENSEMBL: ENSMUSP00000013995 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000013995] [ENSMUST00000141135]

AlphaFold

O35600

Predicted Effect

possibly damaging
Transcript: ENSMUST00000013995
AA Change: H2202R

PolyPhen 2 Score 0.519 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000013995
Gene: ENSMUSG00000028125
AA Change: H2202R

Domain	Start	End	E-Value	Type
transmembrane domain	23	42	N/A	INTRINSIC
Pfam:ABC2_membrane_3	608	856	5e-17	PFAM
AAA	955	1145	9.42e-13	SMART
transmembrane domain	1372	1394	N/A	INTRINSIC
Pfam:ABC2_membrane_3	1522	1894	2.9e-44	PFAM
AAA	1963	2147	7.09e-8	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000141135
AA Change: H994R

PolyPhen 2 Score 0.519 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000143560
Gene: ENSMUSG00000028125
AA Change: H994R

Domain	Start	End	E-Value	Type
Blast:AAA	1	172	9e-78	BLAST
Pfam:ABC2_membrane_3	311	686	1.9e-42	PFAM
AAA	755	939	1.2e-9	SMART

Meta Mutation Damage Score

0.1712

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (75/75)

MGI Phenotype

FUNCTION: The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. This protein was the first of the ABC transporters to be observed in photoreceptors and may play a role in the photoresponse. Mutations in the human gene are found in patients diagnosed with Stargardt disease and are associated with retinitis pigmentosa-19 and macular degeneration age-related 2. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for targeted mutations that inactivate the gene display delayed rod dark adaptation and are a model for juvenile macular degeneration. [provided by MGI curators]

Allele List at MGI

All alleles(8) : Targeted, knock-out(2) Targeted, other(2) Gene trapped(4)

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	C	T	17: 24,500,370 (GRCm39)	V1274M	probably damaging	Het
Ablim3	A	G	18: 61,953,463 (GRCm39)	L350P	probably benign	Het
Adamts17	C	T	7: 66,654,117 (GRCm39)	T449I	probably damaging	Het
Ankrd39	T	A	1: 36,586,241 (GRCm39)	D9V	probably benign	Het
Arhgef7	T	C	8: 11,835,819 (GRCm39)	V192A	probably damaging	Het
Art4	C	T	6: 136,834,269 (GRCm39)		probably benign	Het
Atg4a-ps	A	T	3: 103,553,254 (GRCm39)	V29E	possibly damaging	Het
Ccdc180	A	T	4: 45,949,466 (GRCm39)	K1574*	probably null	Het
Cfap54	T	G	10: 92,846,882 (GRCm39)	T1028P	probably damaging	Het
Clip2	C	T	5: 134,532,254 (GRCm39)	R517H	possibly damaging	Het
Col5a1	A	G	2: 27,914,665 (GRCm39)	T94A	probably benign	Het
Cpne1	T	A	2: 155,918,210 (GRCm39)		probably null	Het
Csnk2a1-ps3	A	T	1: 156,352,213 (GRCm39)	Y138F	probably benign	Het
Cyp2f2	T	A	7: 26,830,667 (GRCm39)	M346K	possibly damaging	Het
D130040H23Rik	AAGAATATATTCTACAGAATATA	AAGAATATA	8: 69,755,748 (GRCm39)		probably null	Het
Ddi2	T	A	4: 141,419,590 (GRCm39)	I387F	probably benign	Het
Dsg1b	A	G	18: 20,523,282 (GRCm39)	N103S	probably damaging	Het
Duxf3	GCCC	GCC	10: 58,066,944 (GRCm39)		probably null	Het
Dysf	A	G	6: 84,156,666 (GRCm39)	I1464V	probably benign	Het
Epha2	A	G	4: 141,044,012 (GRCm39)	Y314C	possibly damaging	Het
Etl4	A	G	2: 20,782,964 (GRCm39)	E675G	probably damaging	Het
Fam114a1	A	C	5: 65,188,733 (GRCm39)	I488L	probably benign	Het
Fbxo31	G	A	8: 122,281,136 (GRCm39)	R337C	probably damaging	Het
Fn1	A	C	1: 71,647,149 (GRCm39)	I1547S	probably null	Het
Garre1	A	T	7: 33,956,770 (GRCm39)		probably null	Het
Get1	T	A	16: 95,954,244 (GRCm39)		probably benign	Het
Gm14305	T	A	2: 176,413,045 (GRCm39)	Y312*	probably null	Het
Golm2	T	A	2: 121,756,096 (GRCm39)	L375Q	probably damaging	Het
Gpihbp1	A	G	15: 75,469,641 (GRCm39)	T119A	possibly damaging	Het
Harbi1	T	G	2: 91,542,980 (GRCm39)	V147G	probably damaging	Het
Ifit1bl1	T	C	19: 34,571,899 (GRCm39)	Y186C	probably damaging	Het
Ighv13-2	C	A	12: 114,321,494 (GRCm39)	A82S	probably benign	Het
Itpr1	T	A	6: 108,364,352 (GRCm39)	D827E	probably benign	Het
Krtap4-2	C	T	11: 99,525,801 (GRCm39)	G17D	unknown	Het
Ly6a	A	T	15: 74,867,333 (GRCm39)		probably benign	Het
Mad1l1	C	T	5: 140,288,741 (GRCm39)	E203K	probably damaging	Het
Mapk14	C	A	17: 28,934,413 (GRCm39)	D101E	probably benign	Het
Meis3	G	T	7: 15,917,764 (GRCm39)	G306W	probably damaging	Het
Mixl1	T	C	1: 180,524,402 (GRCm39)	D59G	probably benign	Het
Nav2	G	A	7: 49,254,293 (GRCm39)	V2364M	probably damaging	Het
Nell1	T	C	7: 50,506,150 (GRCm39)	S786P	possibly damaging	Het
Or13a25	T	G	7: 140,247,813 (GRCm39)	N197K	probably damaging	Het
Or51e2	C	A	7: 102,391,473 (GRCm39)	V246L	possibly damaging	Het
Or51g1	A	G	7: 102,633,687 (GRCm39)	L228P	probably damaging	Het
Or5b107	T	G	19: 13,143,310 (GRCm39)	S311A	probably benign	Het
Pcdhgb8	A	T	18: 37,896,052 (GRCm39)	D374V	probably damaging	Het
Phactr2	A	G	10: 13,129,386 (GRCm39)	I294T	probably benign	Het
Plekha4	C	T	7: 45,190,492 (GRCm39)	A400V	probably damaging	Het
Pramel21	T	C	4: 143,341,760 (GRCm39)	F63S	probably damaging	Het
Pramel4	C	A	4: 143,794,928 (GRCm39)	D441E	probably benign	Het
Prr12	G	A	7: 44,695,267 (GRCm39)	P1400S	unknown	Het
Prss3b	T	A	6: 41,010,038 (GRCm39)	N99Y	possibly damaging	Het
Rbm6	G	A	9: 107,669,089 (GRCm39)	Q608*	probably null	Het
Scamp1	T	A	13: 94,369,598 (GRCm39)	I76F	probably benign	Het
Sez6	G	A	11: 77,865,121 (GRCm39)	E623K	possibly damaging	Het
Sirt1	A	T	10: 63,158,077 (GRCm39)	S446T	probably damaging	Het
Slc25a54	A	G	3: 109,019,404 (GRCm39)	K336R	probably benign	Het
Spag17	G	T	3: 99,912,092 (GRCm39)	V321F	possibly damaging	Het
Sstr1	A	G	12: 58,259,620 (GRCm39)	Y81C	probably damaging	Het
St8sia4	T	C	1: 95,519,525 (GRCm39)	K321R	probably damaging	Het
Stac3	T	C	10: 127,343,584 (GRCm39)	F242S	probably damaging	Het
Tanc2	T	G	11: 105,758,104 (GRCm39)	S622A	probably benign	Het
Tcf4	G	A	18: 69,598,464 (GRCm39)	D106N	possibly damaging	Het
Tfrc	T	A	16: 32,433,571 (GRCm39)	I75N	possibly damaging	Het
Tigd2	G	A	6: 59,187,509 (GRCm39)	W125*	probably null	Het
Tjp1	T	C	7: 64,952,745 (GRCm39)	T1530A	possibly damaging	Het
Tmem132a	T	A	19: 10,844,412 (GRCm39)	H62L	probably benign	Het
Tmem89	T	C	9: 108,743,729 (GRCm39)	S10P	unknown	Het
Trrap	C	T	5: 144,733,961 (GRCm39)	P938L	probably damaging	Het
Unc80	C	A	1: 66,545,912 (GRCm39)	P488T	probably damaging	Het
Uri1	C	A	7: 37,662,873 (GRCm39)	G374C	probably damaging	Het
Utp20	T	C	10: 88,611,180 (GRCm39)	N1379S	probably damaging	Het
Vcan	G	T	13: 89,852,644 (GRCm39)	T772K	probably benign	Het
Zbtb37	A	T	1: 160,847,941 (GRCm39)	Y355*	probably null	Het
Zfp3	A	G	11: 70,662,405 (GRCm39)	I121M	probably benign	Het
Zfp629	A	T	7: 127,209,547 (GRCm39)	L754Q	probably damaging	Het

Other mutations in Abca4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00156:Abca4	APN	3	121,856,353 (GRCm39)	splice site	probably null
IGL00229:Abca4	APN	3	121,964,603 (GRCm39)	missense	probably damaging	1.00
IGL00858:Abca4	APN	3	121,967,537 (GRCm39)	missense	probably damaging	0.97
IGL01316:Abca4	APN	3	121,935,404 (GRCm39)	missense	probably damaging	0.99
IGL01357:Abca4	APN	3	121,897,232 (GRCm39)	missense	probably damaging	1.00
IGL01784:Abca4	APN	3	121,932,154 (GRCm39)	missense	probably benign	0.22
IGL01903:Abca4	APN	3	121,949,050 (GRCm39)	splice site	probably benign
IGL02008:Abca4	APN	3	121,969,750 (GRCm39)	missense	probably benign	0.00
IGL02113:Abca4	APN	3	121,904,127 (GRCm39)	missense	possibly damaging	0.90
IGL02142:Abca4	APN	3	121,963,575 (GRCm39)	missense	probably benign	0.01
IGL02200:Abca4	APN	3	121,862,663 (GRCm39)	missense	probably benign	0.00
IGL02203:Abca4	APN	3	121,973,457 (GRCm39)	missense	probably benign
IGL02306:Abca4	APN	3	121,952,044 (GRCm39)	missense	probably damaging	1.00
IGL02307:Abca4	APN	3	121,935,395 (GRCm39)	missense	probably damaging	1.00
IGL02673:Abca4	APN	3	121,897,150 (GRCm39)	missense	probably damaging	1.00
IGL02864:Abca4	APN	3	121,937,080 (GRCm39)	missense	probably damaging	1.00
IGL02886:Abca4	APN	3	121,921,863 (GRCm39)	missense	probably damaging	0.96
IGL02934:Abca4	APN	3	121,956,008 (GRCm39)	nonsense	probably null
IGL02992:Abca4	APN	3	121,921,935 (GRCm39)	missense	probably damaging	0.96
IGL03083:Abca4	APN	3	121,932,261 (GRCm39)	critical splice donor site	probably null
IGL03258:Abca4	APN	3	121,931,210 (GRCm39)	splice site	probably benign
IGL03279:Abca4	APN	3	121,935,381 (GRCm39)	missense	probably benign	0.12
3-1:Abca4	UTSW	3	121,874,574 (GRCm39)	missense	probably benign	0.01
B6819:Abca4	UTSW	3	121,897,273 (GRCm39)	splice site	probably benign
K7894:Abca4	UTSW	3	121,941,517 (GRCm39)	frame shift	probably null
PIT4151001:Abca4	UTSW	3	121,930,670 (GRCm39)	missense	probably damaging	0.99
PIT4453001:Abca4	UTSW	3	121,898,965 (GRCm39)	missense	probably damaging	0.99
R0001:Abca4	UTSW	3	121,874,660 (GRCm39)	splice site	probably benign
R0091:Abca4	UTSW	3	121,932,179 (GRCm39)	missense	possibly damaging	0.94
R0138:Abca4	UTSW	3	121,899,098 (GRCm39)	missense	probably damaging	1.00
R0344:Abca4	UTSW	3	121,877,613 (GRCm39)	missense	probably damaging	1.00
R0347:Abca4	UTSW	3	121,913,748 (GRCm39)	missense	probably benign	0.00
R0508:Abca4	UTSW	3	121,917,200 (GRCm39)	splice site	probably benign
R0607:Abca4	UTSW	3	121,950,081 (GRCm39)	missense	probably damaging	1.00
R0835:Abca4	UTSW	3	121,919,862 (GRCm39)	missense	probably damaging	1.00
R0839:Abca4	UTSW	3	121,920,527 (GRCm39)	missense	probably damaging	0.99
R1138:Abca4	UTSW	3	121,967,497 (GRCm39)	missense	probably benign	0.13
R1448:Abca4	UTSW	3	121,956,577 (GRCm39)	splice site	probably null
R1453:Abca4	UTSW	3	121,862,763 (GRCm39)	missense	probably benign	0.04
R1533:Abca4	UTSW	3	121,928,807 (GRCm39)	missense	probably benign	0.07
R1645:Abca4	UTSW	3	121,948,926 (GRCm39)	missense	probably benign	0.00
R1763:Abca4	UTSW	3	121,957,479 (GRCm39)	missense	probably damaging	1.00
R1763:Abca4	UTSW	3	121,904,330 (GRCm39)	missense	probably benign	0.09
R1838:Abca4	UTSW	3	121,921,954 (GRCm39)	missense	probably benign
R1867:Abca4	UTSW	3	121,899,010 (GRCm39)	missense	probably damaging	1.00
R1907:Abca4	UTSW	3	121,862,661 (GRCm39)	missense	probably damaging	0.99
R1935:Abca4	UTSW	3	121,846,572 (GRCm39)	missense	probably benign	0.00
R1936:Abca4	UTSW	3	121,846,572 (GRCm39)	missense	probably benign	0.00
R2165:Abca4	UTSW	3	121,906,048 (GRCm39)	missense	possibly damaging	0.90
R2391:Abca4	UTSW	3	121,952,071 (GRCm39)	missense	probably benign	0.00
R2403:Abca4	UTSW	3	121,964,592 (GRCm39)	missense	probably damaging	1.00
R3788:Abca4	UTSW	3	121,846,561 (GRCm39)	missense	possibly damaging	0.50
R3814:Abca4	UTSW	3	121,964,570 (GRCm39)	splice site	probably benign
R4554:Abca4	UTSW	3	121,949,992 (GRCm39)	missense	possibly damaging	0.91
R4649:Abca4	UTSW	3	121,963,542 (GRCm39)	missense	probably damaging	1.00
R4653:Abca4	UTSW	3	121,932,230 (GRCm39)	nonsense	probably null
R4655:Abca4	UTSW	3	121,941,147 (GRCm39)	missense	possibly damaging	0.93
R4668:Abca4	UTSW	3	121,948,948 (GRCm39)	missense	possibly damaging	0.90
R4705:Abca4	UTSW	3	121,899,019 (GRCm39)	missense	probably damaging	0.98
R4788:Abca4	UTSW	3	121,960,361 (GRCm39)	missense	probably damaging	1.00
R4795:Abca4	UTSW	3	121,969,772 (GRCm39)	missense	probably damaging	0.99
R4999:Abca4	UTSW	3	121,899,019 (GRCm39)	missense	probably damaging	1.00
R5301:Abca4	UTSW	3	121,896,502 (GRCm39)	missense	probably damaging	0.96
R5372:Abca4	UTSW	3	121,848,988 (GRCm39)	missense	probably damaging	0.96
R5395:Abca4	UTSW	3	121,874,590 (GRCm39)	missense	probably benign	0.00
R5539:Abca4	UTSW	3	121,963,557 (GRCm39)	missense	probably damaging	1.00
R5583:Abca4	UTSW	3	121,942,550 (GRCm39)	missense	probably damaging	0.99
R5706:Abca4	UTSW	3	121,847,910 (GRCm39)	missense	probably benign	0.10
R5719:Abca4	UTSW	3	121,928,915 (GRCm39)	critical splice donor site	probably null
R5731:Abca4	UTSW	3	121,926,242 (GRCm39)	missense	probably damaging	1.00
R5802:Abca4	UTSW	3	121,847,881 (GRCm39)	missense	probably damaging	1.00
R5819:Abca4	UTSW	3	121,930,630 (GRCm39)	missense	probably damaging	0.97
R5853:Abca4	UTSW	3	121,897,180 (GRCm39)	missense	probably benign
R6053:Abca4	UTSW	3	121,964,666 (GRCm39)	missense	probably damaging	0.99
R6135:Abca4	UTSW	3	121,932,096 (GRCm39)	missense	possibly damaging	0.69
R6185:Abca4	UTSW	3	121,919,789 (GRCm39)	missense	probably damaging	0.97
R6227:Abca4	UTSW	3	121,930,743 (GRCm39)	nonsense	probably null
R6293:Abca4	UTSW	3	121,935,395 (GRCm39)	missense	probably damaging	1.00
R6297:Abca4	UTSW	3	121,926,179 (GRCm39)	missense	probably benign	0.24
R6367:Abca4	UTSW	3	121,897,229 (GRCm39)	missense	probably damaging	1.00
R6376:Abca4	UTSW	3	121,917,309 (GRCm39)	missense	possibly damaging	0.95
R6405:Abca4	UTSW	3	121,967,311 (GRCm39)	splice site	probably null
R6525:Abca4	UTSW	3	121,931,308 (GRCm39)	missense	probably benign	0.00
R6602:Abca4	UTSW	3	121,932,150 (GRCm39)	missense	probably benign	0.00
R6681:Abca4	UTSW	3	121,915,447 (GRCm39)	missense	probably damaging	1.00
R6747:Abca4	UTSW	3	121,919,962 (GRCm39)	splice site	probably null
R6852:Abca4	UTSW	3	121,928,844 (GRCm39)	missense	probably damaging	0.99
R7049:Abca4	UTSW	3	121,941,497 (GRCm39)	missense	probably benign	0.00
R7072:Abca4	UTSW	3	121,967,592 (GRCm39)	missense	probably damaging	1.00
R7092:Abca4	UTSW	3	121,932,218 (GRCm39)	missense	probably damaging	1.00
R7110:Abca4	UTSW	3	121,926,292 (GRCm39)	missense	probably damaging	1.00
R7138:Abca4	UTSW	3	121,899,113 (GRCm39)	nonsense	probably null
R7172:Abca4	UTSW	3	121,897,189 (GRCm39)	nonsense	probably null
R7263:Abca4	UTSW	3	121,847,843 (GRCm39)	missense	probably damaging	0.99
R7414:Abca4	UTSW	3	121,896,387 (GRCm39)	missense	probably benign	0.28
R7537:Abca4	UTSW	3	121,967,637 (GRCm39)	missense	possibly damaging	0.68
R7577:Abca4	UTSW	3	121,967,663 (GRCm39)	missense	probably damaging	1.00
R7665:Abca4	UTSW	3	121,838,139 (GRCm39)	start gained	probably benign
R7758:Abca4	UTSW	3	121,921,816 (GRCm39)	missense	probably damaging	1.00
R7935:Abca4	UTSW	3	121,904,186 (GRCm39)	missense	possibly damaging	0.85
R8237:Abca4	UTSW	3	121,955,952 (GRCm39)	missense	probably benign	0.00
R8255:Abca4	UTSW	3	121,948,926 (GRCm39)	missense	probably benign	0.00
R8294:Abca4	UTSW	3	121,897,217 (GRCm39)	missense	possibly damaging	0.75
R8504:Abca4	UTSW	3	121,922,983 (GRCm39)	missense	probably benign	0.01
R8536:Abca4	UTSW	3	121,973,394 (GRCm39)	missense	probably benign	0.01
R8714:Abca4	UTSW	3	121,942,528 (GRCm39)	missense	probably benign	0.19
R8771:Abca4	UTSW	3	121,880,320 (GRCm39)	missense	probably damaging	0.97
R8835:Abca4	UTSW	3	121,896,433 (GRCm39)	missense	probably benign	0.00
R8845:Abca4	UTSW	3	121,930,651 (GRCm39)	missense	probably damaging	1.00
R8856:Abca4	UTSW	3	121,906,096 (GRCm39)	missense	probably benign
R8933:Abca4	UTSW	3	121,921,786 (GRCm39)	missense	probably damaging	1.00
R9052:Abca4	UTSW	3	121,940,908 (GRCm39)	missense	possibly damaging	0.68
R9221:Abca4	UTSW	3	121,921,828 (GRCm39)	missense	probably damaging	1.00
R9262:Abca4	UTSW	3	121,964,639 (GRCm39)	missense	probably damaging	1.00
R9301:Abca4	UTSW	3	121,881,128 (GRCm39)	missense	probably benign	0.24
R9367:Abca4	UTSW	3	121,838,197 (GRCm39)	start codon destroyed	probably null	0.99
R9408:Abca4	UTSW	3	121,931,274 (GRCm39)	missense	probably benign
R9425:Abca4	UTSW	3	121,926,344 (GRCm39)	missense	probably damaging	1.00
R9464:Abca4	UTSW	3	121,913,714 (GRCm39)	missense	probably benign	0.08
R9483:Abca4	UTSW	3	121,879,275 (GRCm39)	missense
R9751:Abca4	UTSW	3	121,881,126 (GRCm39)	missense	probably benign	0.00
Z1176:Abca4	UTSW	3	121,950,092 (GRCm39)	missense	probably damaging	1.00
Z1176:Abca4	UTSW	3	121,897,137 (GRCm39)	missense	probably damaging	1.00
Z1177:Abca4	UTSW	3	121,967,563 (GRCm39)	missense	probably benign	0.21
Z1177:Abca4	UTSW	3	121,941,435 (GRCm39)	missense	possibly damaging	0.79
Z1189:Abca4	UTSW	3	121,877,642 (GRCm39)	missense	possibly damaging	0.82

Predicted Primers

PCR Primer
(F):5'- GGGATTGCCTTAGCTCTTACAG -3'
(R):5'- TTAAAGCGAGGGCATCCTGC -3'

Sequencing Primer
(F):5'- GGATTGCCTTAGCTCTTACAGAACTG -3'
(R):5'- ACTACTCTTGTCAGGTGTTAGCACAG -3'

Posted On

2021-12-30